Whole-exome variant dataset for an RTS-like case with ANAPC1 VUS

Title:Variant dataset from a Rothmund–Thomson syndrome–like case with ANAPC1 variant of uncertain significance Description:This dataset contains whole-exome sequencing (WES) variant information from a 29-year-old male patient presenting with a Rothmund–Thomson syndrome–like phenotype (lifelong sparse fine hair, malar erythema, soft fingernails, dental malocclusion and caries). Genetic testing identified a heterozygous ANAPC1 NM_022662.4:c.4907T>C (p.Val1636Ala) variant of uncertain significance (VUS). No pathogenic variants were detected in RECQL4 or other known RTS-associated genes. The dataset includes: RTS_like_ANAPC1_VUS_variants.xlsx — summary sheet and variant-level annotation. README_RTS_like_WES_dataset.txt — description of the dataset and file contents. METHODS_WES.txt — brief, de-identified description of the WES methodology. This dataset has been anonymized and contains no personally identifiable information. It is shared to comply with BMC Medical Genetics data availability requirements and to facilitate further research into ANAPC1 and hair biology. Keywords:Rothmund–Thomson syndrome, ANAPC1, whole-exome sequencing, variant of uncertain significance, rare genodermatosis